[Gastroschisis: Prenatal ultrasonography and obstetrical criteria for predicting neonatal outcome]. / Laparoschisis : facteurs échographiques et obstétricaux prédictifs d'une évolution post-natale défavorable.

OBJECTIVE: Prenatal diagnosis of complex laparoschisis is difficult and yet it is associated with a significantly increased morbidity and mortality. The aim of the study was to define ultrasonographic factor and obstetrical criteria to predicting adverse neonatal outcome. METHODS: Retrospective cohort study over 10 years, of 35 gastroschisis cases in CHU of Reims (France). The primary outcome was the neonatal death due to gastroschisis. The sonographic markers was bowel dilatation intra- or extra-abdominale, amniotic fluid, intra-uterin growth. The obstetrical criteria was fetal vitality, fetal heart rate, type of delivery, the weight and the term of birth. RESULTS: There were 28 live births, 16 children with favorable outcome, 8 children with adverse perinatal outcome and 4 deaths. There were any sonographic criteria to predicting adverse neonatal outcome. Only the birth weight less than 2000g was associated with an increase gastrointestinal complications (P=0.049). The type of the delivery was not associated with an adverse prenatal outcome. CONCLUSION: The birth weight less than 2000g seems to be associate with an increase gastrointestinal complications. It is important to fight against prematurity in case of gastroschisis.

Molecular heterogeneity in fetal forms of type II lissencephaly.

Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and muscular dystrophy, or muscle-eye-brain disease. The most severe forms of these diseases often have a fetal presentation and lead to a pregnancy termination. We report here the first molecular study on fetal type II LIS in a series of 47 fetuses from 41 unrelated families. Sequencing of the different genes known to be involved in alpha-DG O-glycosylation allowed the molecular diagnosis in 22 families: involvement of POMT1 was demonstrated in 32% of cases, whereas POMGNT1 and POMT2 were incriminated in 15% and in 7% of cases, respectively. We found 30 different mutations in these three genes, 25 were described herein for the first time, 15 in POMT1, and five in POMT2 and POMGNT1. Despite sequencing of FKRP, FCMD, and LARGE, no definitive molecular diagnosis could be made for the other half of our cases. Preliminary results concerning genotype-phenotype correlations show that the choice of the first gene sequenced should depend on the clinical severity of the type II LIS; POMT1 and POMT2 for severest clinical picture and POMGNT1 for milder disease. The other genes, FKRP, FCMD, and LARGE, seem not to be implicated in the fetal form of CMD.

[Increased nuchal translucency and cystic hygroma in the first trimester: prenatal diagnosis and neonatal outcome]. / Hyperclarté nucale et hygroma cervical au premier trimestre de la grossesse: diagnostic prénatal et devenir néonatal.

OBJECTIVE: A prospective study of pregnancy outcome in fetuses with increased nuchal translucency above the 95th centile (group NT) or cystic hygroma (group CH) at 10 to 14 weeks of gestation was performed. PATIENTS AND METHODS: Maternal and fetal data (nuchal translucency, caryotype, pregnancy outcome) and infant follow-up of 223 fetuses with first trimester nuchal translucency thickness (183 NT and 40 CH) were analysed. RESULTS: The measurement of nuchal translucency thickness shows a significant difference between group CH and NT (7.4+/-2.9 mm compared 3.7+/-0.8 mm). Chromosomal abnormalities were present in 55% (22/40) in group CH, with 9 cases/22 (40.9%) of Turner syndrome, compared with 14.2% (26/183) in group NT with trisomy 21 in 15 cases/26 (57.7%) (P<0.05). The rate of unfavourable outcome of pregnancy (spontaneous abortion, elective termination of pregnancy, serious structural anomalies) was 80% (32/40) in group CH compared with 18% (33/183) in group NT (P<0.05). In chromosomally normal pregnancies, the rate of fetus with no visible serious structural anomalies was 44.4% (8/18) in group CH compared with 93% (146/157) in group NT (P<0.05). DISCUSSION AND CONCLUSION: Our data show ultrasonographic evaluation of the fetal nuchal translucency thickness at the first trimester is actually indispensable. Neonatal outcome and malformation rate in fetuses with increased nuchal translucency or cystic hygroma are different, even with normal karyotype.